Muscular dystrophy, hereditary muscular diseases 4.33/5 (3)

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Duchenne muscular dystrophy in boy 5- (a), 10- (b) and 16 years old (c, d). Sanzasello I, Int Sch Res Notices, 2014. Openi.

Definition

Muscular dystrophies are a group of hereditary, progressive muscle diseases. Gentests are possible for several of the conditions (genportalen.no)

Different types

Limb-girdle

  • Several types
  • Genetic testing is possible
  • Spontaneous mutation in the CAV3 gene and partial caveolin3 deficiency with high creatine kinase (CK) in blood samples but without muscle failure occurring
  • Most often boys
  • Start between early childhood and adulthood
  • Scapulo-humoral type
  • Pelvi-femoral type
  • Autosomal Resisive and Dominant Types
  • Creatine kinase (CK) in blood is elevated

Duchenne Muscular Dystrophy

  • Detected in childhood (genetic test)
    • Delayed development of walking function (walking approximately at 2's age)
    • From the 3-4 age, trouble jumping, running, staircases occurs
    • Often enlarged leg muscles
    • From 5-8 years: waddling
  • X-bound recessive inheritance: Almost only boys get sick. Women are carriers of disease (usually without symptoms). Amniotic fluid diagnosis in pregnancy is possible
  • Mutation in the DMD gene (on chromosome Xp21)
  • Occurrence: 1 per 3.500-6000 newborn boys
  • About. 10% develops isolated cardiomyopathy (heart disease)

Becker Muscular Dystrophy

Facio-scapular

  • At 20's age, 90% has typical features
  • Muscular weakness in the face, scapula, upper arm, calfs
  • Asymmetrical
  • Pain (55-80%)
  • Eye manifestations (Retina of 50-75%)
  • Hearing Loss
  • Abnormal heart rhythms
  • Cognitive problems

Myotonic dystrophy

Emery-Dreifuss dystrophy

Hereditary Metabolic Myopathies

  • Carbohydrate and lipid metabolism
  • Test blood samples on lactate, pyruvate, LD, uric acid, soluble and total carnitine, ketones, glucose, ammonia, myoglobin, liver transaminases, potassium, calcium, phosphate, creatinine, acylcarnitine
  • Test urine on ketones, myoglobin, dicarboxylic acids, acylglycines
  • EMG
  • Ischemic and aerobic load tests
  • Muscle Biopsy
  • DNA genetic testing

Differential Diagnostics (Similar Conditions)

  • Myositis
    • Polymyositis
    • Dermatomyositis
    • Inclusion body myositis

Exercise in muscular dystrophy

Physical activity is not harmful and inactivity should be avoided. To maintain or reduce loss of muscle strength, custom training is recommended. However, it is important that the training is adapted to the individual's diagnosis and function level. Physiotherapist with competence in muscular diseases will be useful for individual advice and follow-up.

Literature


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